Seizure remission and improvement of neurological function in sialidosis with perampanel therapy

Seizure remission and improvement of neurological function in sialidosis with perampanel therapy

A 15-year-old boy experienced myoclonic seizures for 3 years. He initially had occasional myoclonus, gradually progressive ataxia, tremors, and psychomotor and speech regression developed. Eventually, he exhibited nearly continuous myoclonus. He received treatment of sodium valproate, levetiracetam,...

Full description

Bibliographic Details
Main Authors: Su-Ching Hu, Kun-Long Hung, Hui-Ju Chen, Wang-Tso Lee
Format: Article
Language:English
Published: Elsevier 2018-01-01
Series:Epilepsy and Behavior Case Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S221332321730138X
id doaj-056b4c4043574f31abd8fae8be3d95f1
record_format Article
spelling doaj-056b4c4043574f31abd8fae8be3d95f12020-11-25T02:45:26ZengElsevierEpilepsy and Behavior Case Reports2213-32322018-01-01103234Seizure remission and improvement of neurological function in sialidosis with perampanel therapySu-Ching Hu0Kun-Long Hung1Hui-Ju Chen2Wang-Tso Lee3Department of Pediatrics, Cathay General Hospital, Taipei, TaiwanDepartment of Pediatrics, Cathay General Hospital, Taipei, Taiwan; Department of Pediatrics, Fu-Jen Catholic University Hospital, New Taipei, Taiwan; Corresponding author at: Department of Pediatrics, Cathay General Hospital, Taipei, 280 Ren-Ai Road Section 4, Taipei, Taiwan.Department of Pediatrics, Cathay General Hospital, Taipei, Taiwan; Department of Pediatric Neurology, Mackay Children's Hospital Taipei, TaiwanDepartment of Pediatric Neurology, National Taiwan University Children's Hospital Taipei, TaiwanA 15-year-old boy experienced myoclonic seizures for 3 years. He initially had occasional myoclonus, gradually progressive ataxia, tremors, and psychomotor and speech regression developed. Eventually, he exhibited nearly continuous myoclonus. He received treatment of sodium valproate, levetiracetam, clobazam, and phenobarbital, without efficacy. A ketogenic diet also proved ineffective. Adjunctive therapy with 4 mg/day of perampanel was started and was gradually titrated to 10 mg/day. The remission of myoclonic seizures was achieved within one month. The patient's neurological and cognitive functions improved to a certain degree during the following 20 months. Sialidosis was confirmed by the mutations of NEU1 gene. Keywords: Progressive myoclonic epilepsy, Sialidosis, Perampanel, NEU1 genehttp://www.sciencedirect.com/science/article/pii/S221332321730138X
collection DOAJ
language English
format Article
sources DOAJ
author Su-Ching Hu
Kun-Long Hung
Hui-Ju Chen
Wang-Tso Lee
spellingShingle Su-Ching Hu
Kun-Long Hung
Hui-Ju Chen
Wang-Tso Lee
Seizure remission and improvement of neurological function in sialidosis with perampanel therapy
Epilepsy and Behavior Case Reports
author_facet Su-Ching Hu
Kun-Long Hung
Hui-Ju Chen
Wang-Tso Lee
author_sort Su-Ching Hu
title Seizure remission and improvement of neurological function in sialidosis with perampanel therapy
title_short Seizure remission and improvement of neurological function in sialidosis with perampanel therapy
title_full Seizure remission and improvement of neurological function in sialidosis with perampanel therapy
title_fullStr Seizure remission and improvement of neurological function in sialidosis with perampanel therapy
title_full_unstemmed Seizure remission and improvement of neurological function in sialidosis with perampanel therapy
title_sort seizure remission and improvement of neurological function in sialidosis with perampanel therapy
publisher Elsevier
series Epilepsy and Behavior Case Reports
issn 2213-3232
publishDate 2018-01-01
description A 15-year-old boy experienced myoclonic seizures for 3 years. He initially had occasional myoclonus, gradually progressive ataxia, tremors, and psychomotor and speech regression developed. Eventually, he exhibited nearly continuous myoclonus. He received treatment of sodium valproate, levetiracetam, clobazam, and phenobarbital, without efficacy. A ketogenic diet also proved ineffective. Adjunctive therapy with 4 mg/day of perampanel was started and was gradually titrated to 10 mg/day. The remission of myoclonic seizures was achieved within one month. The patient's neurological and cognitive functions improved to a certain degree during the following 20 months. Sialidosis was confirmed by the mutations of NEU1 gene. Keywords: Progressive myoclonic epilepsy, Sialidosis, Perampanel, NEU1 gene
url http://www.sciencedirect.com/science/article/pii/S221332321730138X
work_keys_str_mv AT suchinghu seizureremissionandimprovementofneurologicalfunctioninsialidosiswithperampaneltherapy
AT kunlonghung seizureremissionandimprovementofneurologicalfunctioninsialidosiswithperampaneltherapy
AT huijuchen seizureremissionandimprovementofneurologicalfunctioninsialidosiswithperampaneltherapy
AT wangtsolee seizureremissionandimprovementofneurologicalfunctioninsialidosiswithperampaneltherapy
_version_ 1724762891112939520

Similar Items